title: A novel mutation, R125X in peroxisome assembly factor-1 responsible for Zellweger syndrome.
authors.affiliation: Department of Pediatrics, Gifu University School of Medicine, Japan.
authors.forename: N
authors.initials: N
authors.lastname: Shimozawa
authors.forename: Y
authors.initials: Y
authors.lastname: Suzuki
authors.forename: S
authors.initials: S
authors.lastname: Tomatsu
authors.forename: H
authors.initials: H
authors.lastname: Nakamura
authors.forename: T
authors.initials: T
authors.lastname: Kono
authors.forename: H
authors.initials: H
authors.lastname: Takada
authors.forename: T
authors.initials: T
authors.lastname: Tsukamoto
authors.forename: Y
authors.initials: Y
authors.lastname: Fujiki
authors.forename: T
authors.initials: T
authors.lastname: Orii
authors.forename: N
authors.initials: N
authors.lastname: Kondo
mesh_terms: D001120:Arginine; D018388:Codon, Terminator / Q000235:genetics; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005192:Family Health; D017809:Fatal Outcome; D005260:Female; D005347:Fibroblasts; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation; D010375:Pedigree; D000074428:Peroxisomal Biogenesis Factor 2; D017354:Point Mutation; D015211:Zellweger Syndrome / Q000235:genetics* / Q000473:pathology
chemical_list: D018388:Codon, Terminator; D008565:Membrane Proteins; D000074428:Peroxisomal Biogenesis Factor 2; D004247:DNA; D001120:Arginine